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Updated: Mar 3, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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在心肌和PURKINJE细胞中的新型LQT3突变G1481V和Q1491H的计算分析

Anthony Owusu-Mensah1, Omer Berenfeld2,3, Quentin Plumereau4

  • 1Electrical and Computer Engineering, Old Dominion University, United States of America.

Annual Modeling and Simulation Conference (ANNSIM). Annual Modeling and Simulation Conference (Online)
|March 2, 2026
PubMed
概括

在SCN5A基因中发生的两种新型长QT综合征3型 (LQT3) 突变导致严重的心脏事件,主要发生在普尔金耶细胞中,这表明有针对性的治疗可以预防心脏突然死亡.

关键词:
在去极化后延迟.在去极化后的早期.长QT综合征是什么普尔金尼细胞是什么?

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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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